Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients

Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to fivefold more common among Whites than Blacks, yet Black patie...

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Published in:Scientific reports 2024-04, Vol.14 (1), p.8988-8988, Article 8988
Main Authors: Lim, Hyeyeun, Gingras, Marie-Claude, Zhao, Jing, Byun, Jinyoung, Castro, Patricia D., Tsavachidis, Spiridon, Hu, Jianhong, Doddapaneni, Harshavardhan, Han, Yi, Muzny, Donna M., Gibbs, Richard A., Amos, Christopher I., Thrift, Aaron P.
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631/208
631/67
692/4020
Adenocarcinoma
Breast cancer
Deoxyribonucleic acid
DNA
DNA damage
Esophageal cancer
Esophagus
Homologous recombination
Humanities and Social Sciences
Inequality
Medical prognosis
multidisciplinary
Mutation
Oxidative stress
Precision medicine
Racial differences
Science
Science (multidisciplinary)
Survival
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container_title Scientific reports
container_volume 14
creator Lim, Hyeyeun
Gingras, Marie-Claude
Zhao, Jing
Byun, Jinyoung
Castro, Patricia D.
Tsavachidis, Spiridon
Hu, Jianhong
Doddapaneni, Harshavardhan
Han, Yi
Muzny, Donna M.
Gibbs, Richard A.
Amos, Christopher I.
Thrift, Aaron P.
description Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to fivefold more common among Whites than Blacks, yet Black patients with EAC have poorer survival rates. The racial disparity remains largely unknown, and there is limited knowledge of mutations in EAC regarding racial disparities. We used whole-exome sequencing to show somatic mutation profiles derived from tumor samples from 18 EAC male patients. We identified three molecular subgroups based on the pre-defined esophageal cancer-specific mutational signatures. Group 1 is associated with age and NTHL1 deficiency-related signatures. Group 2 occurs primarily in Black patients and is associated with signatures related to DNA damage from oxidative stress and NTHL1 deficiency-related signatures. Group 3 is associated with defective homologous recombination-based DNA often caused by BRCA mutation in White patients. We observed significantly mutated race related genes ( LCE2B in Black , SDR39U1 in White) were (q-value 
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EAC is characterized by a strong male predominance and racial disparity. EAC is up to fivefold more common among Whites than Blacks, yet Black patients with EAC have poorer survival rates. The racial disparity remains largely unknown, and there is limited knowledge of mutations in EAC regarding racial disparities. We used whole-exome sequencing to show somatic mutation profiles derived from tumor samples from 18 EAC male patients. We identified three molecular subgroups based on the pre-defined esophageal cancer-specific mutational signatures. Group 1 is associated with age and NTHL1 deficiency-related signatures. Group 2 occurs primarily in Black patients and is associated with signatures related to DNA damage from oxidative stress and NTHL1 deficiency-related signatures. Group 3 is associated with defective homologous recombination-based DNA often caused by BRCA mutation in White patients. We observed significantly mutated race related genes ( LCE2B in Black , SDR39U1 in White) were (q-value &lt; 0.1). Our findings underscore the possibility of distinct molecular mutation patterns in EAC among different races. 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subjects 631/208
631/67
692/4020
Adenocarcinoma
Breast cancer
Deoxyribonucleic acid
DNA
DNA damage
Esophageal cancer
Esophagus
Homologous recombination
Humanities and Social Sciences
Inequality
Medical prognosis
multidisciplinary
Mutation
Oxidative stress
Precision medicine
Racial differences
Science
Science (multidisciplinary)
Survival
title Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
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